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Col11a1
Gene Detail
Symbol

Name
ID
Col11a1
collagen, type XI, alpha 1
MGI:88446
Synonyms
C530001D20Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 3
49.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr3:114030540-114220718 bp, + strand
From VEGA annotation of GRCm38

  190179 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56389  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: COL11A1
Gene Tree: Col11a1

Human
homologs
COL11A1, collagen, type XI, alpha 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1301
neXtProt AC: NX_P12107

Human Synonyms: CO11A1, COLL6, STL2

Human Chr (Location): 1p21; chr1:102876467-103108576 (-)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human COL11A1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.
 
Human Diseases Modeled in Mice Using Col11a1 (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Col11a1 interacts with 353 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (23 records)
Data Summary: Results (242)    Tissues (66)    Images (43)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 204
Northern blot 14
RT-PCR 23
cDNA source data(106)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN col11a1a, col11a1b    NEW 
Molecular
reagents
All nucleic(112) Genomic(2) cDNA(106) Primer pair(4)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000022509 (Evidence)
Ensembl Gene Model ENSMUSG00000027966 (Evidence)
Entrez Gene 12814 (Evidence)
UniGene 209715
DFCI TC1579972, TC1601321, TC1604972, TC1626944, TC1658686, TC1713954
DoTS DT.101206112, DT.101704553, DT.40163431, DT.91333052, DT.94135163
NIA Mouse Gene Index U003761
Consensus CDS Project CCDS17778.1
International Mouse Phenotyping Consortium Status Col11a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022509 VEGA Gene Model | MGI Sequence Detail 190179 C57BL/6J ±  kb
transcript OTTMUST00000053888 VEGA | MGI Sequence Detail 7667 Not Applicable 
polypeptide OTTMUSP00000025652 VEGA | MGI Sequence Detail 1804 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(11) UniProt(9)
Polymorphisms
PCR(1) : SNPs within 2kb(2167 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2171)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001791 Laminin G domain
Protein Ontology PR:000005694 collagen alpha-1(XI) chain
References
(Earliest) J:24730 Seegmiller R, Chondrodysplasia - an autosomal recessive mutation. Mouse News Lett. 1969;40:38
(Latest) J:215404 Hering TM, et al., Changes in type II procollagen isoform expression during chondrogenesis by disruption of an alternative 5' splice site within Col2a1 exon 2. Matrix Biol. 2014 Jun;36:51-63
All references(68)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1972, MGD-MRK-2053, MGI:1924905

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory